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Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

MedGen UID:
1843295
Concept ID:
C5679841
Disease or Syndrome
Synonyms: silver-Russell syndrome due to maternal uniparental disomy of chromosome 11; Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11; UPD(11)mat
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0016482
Orphanet: ORPHA231147

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSilver-Russell syndrome due to maternal uniparental disomy of chromosome 11

Recent clinical studies

Etiology

Luk HM, Yeung KS, Wong WL, Chung BH, Tong TM, Lo IF
Hong Kong Med J 2016 Dec;22(6):526-33. Epub 2016 Jul 29 doi: 10.12809/hkmj154750. PMID: 27468965

Diagnosis

Pignata L, Sparago A, Palumbo O, Andreucci E, Lapi E, Tenconi R, Carella M, Riccio A, Cerrato F
Genes (Basel) 2021 Apr 16;12(4) doi: 10.3390/genes12040581. PMID: 33923683Free PMC Article
Luk HM, Yeung KS, Wong WL, Chung BH, Tong TM, Lo IF
Hong Kong Med J 2016 Dec;22(6):526-33. Epub 2016 Jul 29 doi: 10.12809/hkmj154750. PMID: 27468965
Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L
Clin Epigenetics 2016;8:23. Epub 2016 Mar 1 doi: 10.1186/s13148-016-0183-8. PMID: 26933465Free PMC Article

Clinical prediction guides

Luk HM, Yeung KS, Wong WL, Chung BH, Tong TM, Lo IF
Hong Kong Med J 2016 Dec;22(6):526-33. Epub 2016 Jul 29 doi: 10.12809/hkmj154750. PMID: 27468965

Supplemental Content

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